Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2011 1
2012 1
2018 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "3MC syndrome 3"
Page 1
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. Ashton CJ, et al. Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. Clin Dysmorphol. 2023. PMID: 36503917
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. ...Our study contributes to the evolving clinical and molec …
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorder …
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. Titomanlio L, et al. Am J Med Genet A. 2005 Sep 1;137A(3):332-5. doi: 10.1002/ajmg.a.30878. Am J Med Genet A. 2005. PMID: 16096999 Review.
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. ...Those similarities lead us t …
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, pt …
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.
Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, Reis A, Zweier C. Graul-Neumann LM, et al. Eur J Med Genet. 2018 Jul;61(7):363-368. doi: 10.1016/j.ejmg.2018.01.016. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407414
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. ...In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP …
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. ...In …
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1).
Selman L, Henriksen ML, Brandt J, Palarasah Y, Waters A, Beales PL, Holmskov U, Jørgensen TJ, Nielsen C, Skjodt K, Hansen S. Selman L, et al. J Immunol Methods. 2012 Jan 31;375(1-2):182-8. doi: 10.1016/j.jim.2011.10.010. Epub 2011 Oct 20. J Immunol Methods. 2012. PMID: 22301270 Free PMC article.
It interacts with glycoconjugates on pathogen surfaces and has been found in complex with mannose-binding lectin-associated serine protease 1 (MASP-1) and/or MASP-3 in circulation. Mutation in the CL-11 gene was recently associated with the developmental syndrome …
It interacts with glycoconjugates on pathogen surfaces and has been found in complex with mannose-binding lectin-associated serine protease …